ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.5853C>T (p.Gly1951=)

gnomAD frequency: 0.00002  dbSNP: rs150164040
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820366 SCV002071152 likely benign not specified 2019-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434325 SCV004160402 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing HIVEP2: BP4, BP7
Invitae RCV003434325 SCV004282799 benign not provided 2023-07-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536339 SCV004754802 likely benign HIVEP2-related disorder 2019-07-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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